GM17910C2 型尼曼匹克病 | NPC2 基因； NPC2 成纤维细胞Cell Line细胞株-BioVector NTCC细胞库

Name细胞名称：NTCC® GM17910 NIEMANN-PICK DISEASE, TYPE C2 | NPC2 GENE; NPC2 Cell Line
C2 型尼曼匹克病 | NPC2 基因； NPC2细胞株
Description描述：Clinically affected; the donor subject is homozygous for a substitution (G>T) at nucleotide 278 (c.278G>T) in exon 3 in the NPC2 gene, resulting in a missense mutation at codon 93 [C93F (Cys93Phe)]; the subject also carries the following polymorphism in the NPC1 gene: G>A at nucleotide 3797 (c.3797G>A) resulting in a substitution of glutamine for arginine (R>Q) at codon 1266 [R1266Q (Arg1266Gln)]; the first nucleotide of the initiating Met codon is numbered +1; fibroblasts showed 4 pmol CE/mg protein/6 hr activity in a cholesterol esterification assay [normal mean was 1855 +/- 1327 pmol CE/mg protein/6 hr, see Park et al. Hum Mut 22:313-325 (2003)]; fibroblasts were scored as npc-like in a filipin staining assay (see Park et al., 2003); a complementation test showed that the cells were of the type 2 complementation group (see Park et al., 2003).
Category分类：Fibroblast
ID编号:NTCC®-GM17910
Size/Quantity数量: 1 Flask/2 Vials
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT/Dry Ice
Storage储存方式: RT/Liquid Nitrogen
Race:
Age年龄:
Gender性别:Male
Cell Type细胞类型: NIEMANN-PICK DISEASE, TYPE C2 | NPC2 GENE; NPC2
Affected State:Yes
Product:Fibroblast
Gene:NPC2
Mutations突变:CYS93PHE
Ethnicity:
Family:2239
Relationship:proband
Karyotype:
Tissue Type组织来源:
Complete Growth Medium完全培养基: BioVector® Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent Complete Medium
Subculturing传代方法:
Cryopreservation冻存方法:Freeze medium: Complete growth medium supplemented with 5% (v/v) DMSO
Storage temperature: liquid nitrogen vapor phase
Culture Conditions培养条件:Atmosphere: air, 95%; carbon dioxide (CO2), 5%
Temperature: 37.0°C
STR Profile鉴定数据:
References参考文献:

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